Product Details

Primer Sequences
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Primer Chromosome Location
Chr.3: 132671960-132672463 on Build GRCh38
Format
Each primer will be delivered in a single tube, dried-down
Quick Reference Guide
Primer Designer Tool Quick Reference
Ampliseq ID's

Gene Details

Gene Symbol
NPHP3-ACAD11
Entrez Gene ID
100532724
Gene Name
NPHP3-ACAD11 readthrough (NMD candidate)
Gene Aliases
-
UniGene
Hs.511991
Gene Chromosome Location
Chr.3: 132558138-132722459 on Build GRCh38
Transcripts
NR_037804.1 NM_001320210.1 NM_001321238.1 NM_001321239.1 NM_024818.4 NM_198329.3

Gene Symbol
UBA5
Entrez Gene ID
79876
Gene Name
ubiquitin like modifier activating enzyme 5
Gene Aliases
THIFP1, UBE1DC1
UniGene
Hs.170737
Gene Chromosome Location
Chr.3: 132654446-132679786 on Build GRCh38
Transcripts
NR_037804.1 NM_001320210.1 NM_001321238.1 NM_001321239.1 NM_024818.4 NM_198329.3

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
7093708 c.729T>C p.T243T Chr.3: 132672094-132672094 on Build GRCh38
7141971 c.737G>T p.R246L Chr.3: 132672102-132672102 on Build GRCh38
4444883 c.736C>T p.R246* Chr.3: 132672101-132672101 on Build GRCh38
7348424 c.805G>A p.V269M Chr.3: 132672170-132672170 on Build GRCh38
4738588 c.726G>T p.K242N Chr.3: 132672091-132672091 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs375213733 Chr.3: 132672118-132672118 on Build GRCh38
rs184463725 Chr.3: 132672397-132672397 on Build GRCh38
rs540839115 Chr.3: 132672101-132672101 on Build GRCh38
rs372527427 Chr.3: 132672067-132672067 on Build GRCh38
rs111650089 Chr.3: 132672404-132672404 on Build GRCh38
rs764562675 Chr.3: 132672399-132672399 on Build GRCh38
rs773526826 Chr.3: 132672004-132672004 on Build GRCh38
rs780296092 Chr.3: 132672420-132672420 on Build GRCh38
rs976655544 Chr.3: 132672204-132672204 on Build GRCh38
rs755608181 Chr.3: 132672212-132672212 on Build GRCh38
rs573316754 Chr.3: 132672073-132672073 on Build GRCh38
rs769837796 Chr.3: 132672016-132672016 on Build GRCh38
rs983272356 Chr.3: 132671997-132671997 on Build GRCh38
rs769645376 Chr.3: 132672146-132672146 on Build GRCh38
rs763770764 Chr.3: 132672045-132672045 on Build GRCh38
rs749878628 Chr.3: 132672076-132672076 on Build GRCh38
rs909294338 Chr.3: 132672286-132672286 on Build GRCh38
rs751277286 Chr.3: 132672175-132672175 on Build GRCh38
rs137917021 Chr.3: 132672233-132672233 on Build GRCh38
rs763860645 Chr.3: 132672169-132672169 on Build GRCh38
rs762779162 Chr.3: 132672164-132672164 on Build GRCh38
rs886039759 Chr.3: 132672143-132672143 on Build GRCh38
rs772443221 Chr.3: 132672000-132672000 on Build GRCh38
rs192068137 Chr.3: 132672323-132672323 on Build GRCh38
rs748551888 Chr.3: 132672083-132672083 on Build GRCh38
rs372024771 Chr.3: 132672035-132672035 on Build GRCh38
rs1057384017 Chr.3: 132672393-132672393 on Build GRCh38
rs112040200 Chr.3: 132672358-132672358 on Build GRCh38
rs1035334349 Chr.3: 132672014-132672014 on Build GRCh38
rs767139749 Chr.3: 132672190-132672190 on Build GRCh38
rs759388024 Chr.3: 132672030-132672030 on Build GRCh38
rs760879507 Chr.3: 132672016-132672016 on Build GRCh38
rs558033940 Chr.3: 132672043-132672043 on Build GRCh38
rs775369367 Chr.3: 132672162-132672162 on Build GRCh38
rs749922884 Chr.3: 132672192-132672192 on Build GRCh38
rs560469100 Chr.3: 132672361-132672361 on Build GRCh38
rs994553111 Chr.3: 132672254-132672254 on Build GRCh38
rs3046203 Chr.3: 132672369-132672370 on Build GRCh38
rs761372183 Chr.3: 132672189-132672189 on Build GRCh38
rs778192026 Chr.3: 132672098-132672098 on Build GRCh38
rs766539267 Chr.3: 132672103-132672105 on Build GRCh38
rs752164143 Chr.3: 132672227-132672232 on Build GRCh38
rs574111179 Chr.3: 132672278-132672278 on Build GRCh38
rs756815658 Chr.3: 132672057-132672057 on Build GRCh38
rs759606290 Chr.3: 132672121-132672121 on Build GRCh38
rs193021807 Chr.3: 132672031-132672031 on Build GRCh38
rs113560492 Chr.3: 132672409-132672409 on Build GRCh38
rs986127310 Chr.3: 132672282-132672282 on Build GRCh38
rs773352117 Chr.3: 132672015-132672016 on Build GRCh38
rs755453105 Chr.3: 132672077-132672077 on Build GRCh38
rs776688921 Chr.3: 132672026-132672026 on Build GRCh38
rs187953399 Chr.3: 132672309-132672309 on Build GRCh38
rs965828000 Chr.3: 132672014-132672017 on Build GRCh38
rs111321422 Chr.3: 132672304-132672306 on Build GRCh38
rs762890718 Chr.3: 132672016-132672019 on Build GRCh38
rs931969284 Chr.3: 132672276-132672276 on Build GRCh38
rs183246308 Chr.3: 132672297-132672297 on Build GRCh38
rs1044160885 Chr.3: 132672231-132672231 on Build GRCh38
rs189489767 Chr.3: 132672423-132672423 on Build GRCh38
rs1027715381 Chr.3: 132672275-132672275 on Build GRCh38
rs59956066 Chr.3: 132672024-132672024 on Build GRCh38
rs779426395 Chr.3: 132672081-132672081 on Build GRCh38
rs752452687 Chr.3: 132672032-132672032 on Build GRCh38
rs397706858 Chr.3: 132672377-132672378 on Build GRCh38
rs776579431 Chr.3: 132672108-132672108 on Build GRCh38
rs751187572 Chr.3: 132672047-132672047 on Build GRCh38
rs772532453 Chr.3: 132672091-132672091 on Build GRCh38
rs368330145 Chr.3: 132672017-132672017 on Build GRCh38
rs762158063 Chr.3: 132672012-132672013 on Build GRCh38
rs35287760 Chr.3: 132672376-132672377 on Build GRCh38
rs531477343 Chr.3: 132672422-132672422 on Build GRCh38

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